S.NO | Uniprot ID | Protein Name | Sequence Length | GoLoco Repeats region | Disease |
1 | P81274 | G-protein-signaling modulator 2 | 684 | "DISEASE: Chudley-McCullough syndrome (CMCS) [MIM:604213]: An autosomal recessive neurologic disorder characterized by early-onset sensorineural deafness and specific brain anomalies on MRI, including hypoplasia of the corpus callosum, enlarged cysterna magna with mild focal cerebellar dysplasia, and nodular heterotopia. Some patients have hydrocephalus. Psychomotor development is normal. Note=The disease is caused by mutations affecting the gene represented in this entry". | |